Amelioration of circulating lipoprotein profile and proteinuria in a patient with LCAT deficiency due to a novel mutation (Cys74Tyr) in the lid region of LCAT under a fat-restricted diet and ARB treatment

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• 作者：Shokichi Naito^a ; ^{s-naito@med.kitasato-u.ac.jp} ; Mariko Kamata^a ; Masako Furuya^a ; Miyuki Hayashi^a ; Masayuki Kuroda^b ; ^c ; Hideaki Bujo^b ; Kouju Kamata^a
• 关键词：Familial LCAT deficiency ; Novel gene mutation ; Cys74Tyr ; Fat-restriction diet ; Circulating lipoprotein profile ; Renal function
• 刊名：Atherosclerosis
• 出版年：2013
• 出版时间：May, 2013
• 年：2013
• 卷：228
• 期：1
• 页码：193-197
• 全文大小：653 K

文摘

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a hereditary disease characterized by an abnormal lipid profile, corneal opacity, anemia and progressive renal disease. We report a patient with complete loss of LCAT activity due to a novel lcat gene mutation of Cys74Tyr in the lid region of LCAT protein. Esterification of cholesterol in this patient was disturbed by disruption of a substrate binding loop of Cys50-Cys74 in LCAT protein. She had progressive renal dysfunction, proteinuria, corneal opacity, anemia and an abnormal lipid profile. Her serum lipids showed a significant increase in abnormal lipoproteins at the original position in agarose gel electrophoresis and VLDL-cholesterol, and a severe decrease in serum HDL-cholesterol. Lipoprotein analyzes also revealed the presence of an abnormal midband lipoprotein, and a maturation disturbance of HDL particles. Renal function and proteinuria improved following the adoption of a fat-restricted diet and administration of an angiotensin II receptor blocker. The abnormal lipoproteins also decreased after this treatment.